Genome Test Turnaround Time Down To 50 Hours

Doctors at Children's Mercy Hospital in Kansas City were able to receive the results of a baby's complete genome sequence and analysis just over two days after the baby's blood sample was taken. According to a recently published study, they were able to make diagnoses in three out of four babies tested. Dr. Stephen Kingsmore, director of the hospital's Center for Pediatric Genomic Medicine, said this milestone will "transform the world of neonatology."

What's the Big Idea?

Up to one-third of babies in neonatal intensive care units have genetic diseases caused by DNA mutations. The sheer number of possible diseases -- more than 3500 -- make diagnoses at any speed difficult. Considering the number of years and dollars spent on the original Human Genome Project, obtaining a complete genome sequence and analysis in a matter of days allows doctors to "consider [it] to be relevant for hospital medicine," according to Kingsmore. Another expert says that even-faster turnaround times are desirable when analyzing the DNA of a fetus still in the womb but for babies that are already born, "two days is pretty fast." Unfortunately, at $13,000, the test is still fairly expensive.